Canonical Allele Identifier: CA2493964897

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669992740

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877399_43877433del , CM000664.2:g.43877399_43877433del	GRCh38
NC_000002.11:g.44104538_44104572del , CM000664.1:g.44104538_44104572del	GRCh37
NC_000002.10:g.43958042_43958076del	NCBI36
NG_008884.1:g.43436_43470del
NG_008884.2:g.50458_50492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-162_1757-128del MANE Select	ENSP00000272286.2:n.1757-162_1757-128del
ENST00000272286.2:c.1757-162_1757-128del	ENSP00000272286.2:n.1757-162_1757-128del
NM_022437.2:c.1757-162_1757-128del	NP_071882.1:n.1757-162_1757-128del
XM_005264483.2:c.1754-162_1754-128del	XP_005264540.1:n.1754-162_1754-128del
XM_011533029.1:c.1769-162_1769-128del	XP_011531331.1:n.1769-162_1769-128del
XM_011533030.1:c.1766-162_1766-128del	XP_011531332.1:n.1766-162_1766-128del
XM_011533031.1:c.1541-162_1541-128del	XP_011531333.1:n.1541-162_1541-128del
XR_939707.1:n.2259-162_2259-128del
NM_001357321.1:c.1754-162_1754-128del	NP_001344250.1:n.1754-162_1754-128del
XM_011533029.2:c.1769-162_1769-128del	XP_011531331.1:n.1769-162_1769-128del
XM_011533030.2:c.1766-162_1766-128del	XP_011531332.1:n.1766-162_1766-128del
XR_001738891.1:n.2273-162_2273-128del
XR_939707.2:n.2273-162_2273-128del
NM_022437.3:c.1757-162_1757-128del MANE Select	NP_071882.1:n.1757-162_1757-128del
NM_001357321.2:c.1754-162_1754-128del	NP_001344250.1:n.1754-162_1754-128del